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BabyScreen+ newborn screening

Gene: RAI1

Red List (low evidence)

RAI1 (retinoic acid induced 1)
EnsemblGeneIds (GRCh38): ENSG00000108557
EnsemblGeneIds (GRCh37): ENSG00000108557
OMIM: 607642, Gene2Phenotype
RAI1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Congenital onset.

No specific treatment.
Created: 14 Dec 2022, 7:49 p.m. | Last Modified: 14 Dec 2022, 7:49 p.m.
Panel Version: 0.1466

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Smith-Magenis syndrome (MIM#182290)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Smith-Magenis syndrome (MIM#182290)
OMIM
607642
Clinvar variants
Variants in RAI1
Penetrance
None
Panels with this gene

History Filter Activity

14 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rai1 has been classified as Red List (Low Evidence).

14 Dec 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAI1 were changed from Smith-Magenis syndrome; Potocki-Lupski syndrome to Smith-Magenis syndrome (MIM#182290)

14 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rai1 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAI1 was added gene: RAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome; Potocki-Lupski syndrome